Results 41 to 50 of about 4,879,561 (170)

Comparison of recent pivotal recommendations for the diagnosis and treatment of late-onset Pompe disease using diagnostic nodes-the Pompe disease burden scale. [PDF]

, 2019
Pompe disease is a rare autosomal-recessive disorder characterised by limb-girdle myopathy and respiratory weakness in the late-onset form (LOPD). Various mutations in the acid alpha-glucosidase gene lead to toxic lysosomal and extra-lysosomal glycogen ...
Schoser, Benedikt, Putora, Paul Martin, Hundsberger, Thomas, Rösler, Kai Michael, Leupold, Daniela   +4 more
core   +2 more sources

Infantile Pompe disease with intrauterine onset: a case report and literature review

Italian Journal of Pediatrics, 2022
Background Pompe disease is a rare autosomal recessive disease. Acid alpha−glucosidase (GAA) deficiency leads to glycogen storage in lysosomes, causing skeletal, cardiac, and smooth muscle lesions.
Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang   +5 more
doaj   +1 more source

Pompe disease: genetics and management [PDF]

, 2020
Pompe disease (PD) is an autosomal recessive disease caused by partial or complete deficiency of the lysosomal hydrolase acid alpha-glucosidase, resulting in accumulation of glycogen in various tissues.
Fidani, Liana, Papadopoulou, Konstantina
core   +1 more source

Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease

MDM Policy & Practice, 2018
Background: Newborn screening is a public health program to identify conditions associated with significant morbidity or mortality that benefit from early intervention.
Lisa A. Prosser, K. K. Lam, Scott D. Grosse, Mia Casale, Alex R. Kemper,   +5 more
doaj   +1 more source

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

Health-Related Quality of Life and Fatigue in Children with Pompe Disease

Journal of Pediatrics: Clinical Practice
Objective: Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and ...
Linda E. Scheffers, Karolijn Dulfer, PhD, Charlotte Lanser, Maarten Mackenbach, MD, Ans T. van der Ploeg, MD, PhD, Johanna M.P. van den Hout, MD, PhD, Linda E. van den Berg, MD, PhD   +6 more
doaj   +1 more source

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

EMBO Molecular Medicine, 2021
Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiology.
Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti   +18 more
doaj   +1 more source

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

International Journal of Neonatal Screening, 2020
Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage.
Raymond Y. Wang
doaj   +1 more source

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results from the Taiwan Screening Program

, 2011
OBJECTIVE: Pompe disease is an autosomal recessive lysosomal storage disorder that is caused by deficient acid alpha- glucosidase activity and results in progressive, debilitating, and often life-threatening symptoms involving the musculoskeletal ...
簡穎秀;蔣書娟;李妮鍾;黃愛珠;陳俊安;吳美環;黃佩欣;蔡輔仁;陳垣崇;胡務亮, CHIEN, YIN-HSIU;CHIANG, SHU-CHUAN;LEE, NI-CHUNG;HUANG, AI-CHU;CHEN, CHUN-AN;WU, MEI-HWAN;HUANG, PEI-HSIN;TSAI, FUU-JEN;CHEN, YUAN-TSONG;HWU, WUH-LIANG   +1 more
core   +1 more source

Infantile-Onset Pompe Disease [PDF]

, 2012
  How to Cite this Article: Ashrafi MR, Tavasoli AR. Infantile-Onset Pompe Disease. Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):7-9. Pls see PDF. References: 1. Kishnani PS, Steiner RD. Pompe disease diagnosis and management guidelines. American J med
ASHRAFI, Mahmoud Reza, TAVASOLI, Alireza
core   +1 more source